Megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare genetic condition that affects the muscles and movement of the intestines. It is also known as MMIHS for short. This syndrome is usually identified with patients who have blockage or enlargement of the intestines, as well as contraction problems. The exact cause of this condition is still not fully understood, but research has identified some associated genes and genetic mutations that may contribute to the formation of MMIHS.

MMIHS is a rare disorder, with only a few hundred cases reported in the scientific literature. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated gene for their child to develop the condition. Some additional genetic and rare diseases have been identified in patients with MMIHS, suggesting that there may be other genes or factors at play in the development of this condition.

Patients with MMIHS often experience more than just intestinal problems. Other features may include microcolon (a small or underdeveloped colon), megacystis (an enlarged urinary bladder), and hypotonia (low muscle tone). These additional features can vary from patient to patient, and the severity of symptoms can also vary.

Testing for genetic causes of MMIHS can be done through targeted gene testing or whole-exome sequencing. Researchers and clinicians at the Hofstra-North Shore Feinstein Institute for Medical Research have been studying the genetic basis of MMIHS and have identified several genes that are associated with the condition. Patients and families affected by MMIHS can find more information and support from advocacy resources such as OMIM (Online Mendelian Inheritance in Man) and the GeneReviews catalog.

In conclusion, Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare genetic condition that affects the muscles and movement of the intestines. It is associated with various genes and additional features, and its inheritance pattern is autosomal recessive. Genetic testing and support from advocacy resources can help patients and families learn more about this condition and find the necessary support and resources.

Frequency

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare condition. Its frequency is estimated to be less than 1 in 500,000 births. Due to its rarity, it may be underdiagnosed or misdiagnosed in some cases.

Genetic testing can help confirm the diagnosis of MMIHS. It can detect mutations in certain genes that are associated with the condition. These genes include ACTG2, MYH11, and MYLK. Testing is usually done on a patient’s blood or tissue samples.

Testing for MMIHS can also involve assessing the contractility of the patient’s intestinal muscles or measuring the time it takes for nutrients to pass through the intestines. These tests can help identify the hypoperistalsis and microcolon features of the syndrome.

Specific gene mutations in ACTG2, MYH11, and MYLK are often identified in patients with MMIHS. These mutations can be inherited from the parents (known as the familial inheritance) or occur spontaneously in the patient (known as de novo mutations).

Due to the rarity of MMIHS, there are limited resources and scientific articles available about the condition. However, there are some scientific references available for further learning and support. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two reliable sources for additional information about MMIHS and related genetic disorders.

Genetic testing and diagnosis for MMIHS can be challenging, and it is recommended that healthcare professionals consult with specialized centers, such as the Center for Human Genetics at KU Leuven in Belgium or the Division of Medical Genetics at the Hofstra Northwell School of Medicine in the United States, for more information and support.

It is important for healthcare professionals and researchers to continue studying and understanding the causes and features of MMIHS to provide better support and treatment options for affected individuals and their families.

Causes

The causes of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are not fully understood. However, research suggests that the condition may have both genetic and environmental factors.

Some cases of MMIHS are inherited in an autosomal recessive pattern, which means that both copies of a particular gene must be altered for a person to develop the condition. In other cases, MMIHS may be caused by de novo (new) genetic changes that occur for the first time in the affected individual and are not inherited from their parents.

Scientists have identified several genes associated with MMIHS. Mutations in the ACTG2 gene have been found in some affected individuals, which can lead to abnormal formation and contraction of the smooth muscles in the intestines. Other genes, such as MYH11, have also been associated with the condition.

It is important to note that not all individuals with MMIHS have identified genetic mutations. This suggests that there may be other genes or genetic factors involved in the development of the condition that have not yet been discovered.

While the exact mechanisms leading to the formation of megacystis, microcolon, and intestinal hypoperistalsis are still not fully understood, it is believed that there is a blockage or malfunctioning of the muscles in the intestines that prevents them from contracting and moving stool through the digestive system.

In some cases, MMIHS may be associated with other genetic disorders or conditions. For example, mutations in the PIEZO1 gene have been identified in individuals with a condition called distal arthrogryposis type 3, which is characterized by joint contractures and muscle weakness. Some individuals with MMIHS may also have additional features or symptoms that are not typically seen in this condition.

Overall, the causes of MMIHS are complex and multidimensional. Further research and genetic testing are needed to fully understand the underlying mechanisms and genetic factors involved in the development of this rare condition.

Learn more about the genes associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic condition characterized by abnormalities in the formation and functioning of the urinary bladder, intestines, and muscles responsible for peristalsis. It is usually caused by mutations in the ACTG2 or MYH9 genes.

ACTG2 gene mutations are the most common cause of MMIHS and are associated with a more severe form of the condition. The ACTG2 gene provides instructions for making a protein called actin, which is involved in muscle contraction. Mutations in this gene can lead to abnormal contractions of the bladder and intestines, resulting in the characteristic features of MMIHS.

MYH9 gene mutations are a less common cause of MMIHS but can also result in the syndrome. The MYH9 gene provides instructions for making a protein called myosin, which is also involved in muscle contraction. Mutations in this gene can disrupt the normal functioning of the muscles in the bladder and intestines, leading to the symptoms of MMIHS.

To determine if a patient has MMIHS and to identify the specific genetic cause of the condition, genetic testing can be performed. This typically involves analyzing a blood or saliva sample for mutations in the ACTG2 and MYH9 genes. If a mutation is identified, it can help confirm the diagnosis of MMIHS and provide important information about the inheritance pattern of the condition.

It is important to note that there may be other genes associated with MMIHS that have not yet been identified. Ongoing research is focused on identifying additional genes involved in the development of this rare syndrome.

For more information about the genes associated with MMIHS, the following resources can be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the ACTG2 and MYH9 genes, including their functions, associated disorders, and genetic variants.
  • The GeneReviews website offers detailed clinical descriptions of MMIHS and provides information about genetic testing options and management strategies for affected individuals.
  • The Rare Diseases Clinical Research Network (RDCRN) supports research on rare diseases, including MMIHS, and provides access to scientific publications, patient advocacy resources, and clinical trials.
  • The MMIHS Center at Halim is a specialized center that focuses on the diagnosis, treatment, and management of this rare genetic condition. They provide comprehensive care for individuals with MMIHS and offer resources for patients and their families.
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By understanding the genes associated with MMIHS, researchers and healthcare professionals can further unravel the complex genetic mechanisms underlying this condition. This knowledge can contribute to the development of improved diagnostic techniques, targeted therapies, and management strategies for individuals with MMIHS.

Inheritance

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic condition that affects the muscles of the bladder, intestines, and colon. It is characterized by the presence of large bladder (megacystis), small or absent colon (microcolon), and decreased movement (hypoperistalsis) of the intestines. The exact causes of MMIHS are not fully understood, but it is believed to be caused by mutations in certain genes associated with the contraction of the muscles in these organs.

While most cases of MMIHS are believed to be caused by genetic mutations inherited from the parents, some cases may be caused by new (de novo) genetic mutations that occur in the affected individual for the first time. Inheritance of MMIHS follows an autosomal recessive pattern, meaning that both copies of the gene associated with the condition must be mutated in order for the patient to develop the syndrome.

To identify the genes associated with MMIHS, genetic testing can be performed. This involves analyzing the patient’s DNA to look for mutations in the genes known to be associated with the condition. Genetic testing can also be used to confirm the diagnosis and provide more information about the specific genetic mutations present in the patient.

The frequency of MMIHS is currently unknown, as it is a very rare condition. However, through scientific research and genetic testing, more information about the condition and its genetic causes is being learned.

Support and advocacy resources for patients and families affected by MMIHS are available through organizations such as the MMIHS Foundation and the Hofstra Family Advocacy and Support Center. These organizations provide information, support, and additional resources for individuals and families affected by the condition.

References:

  1. Halim D.A. et al., Am J Med Genet. 2017 Jun;173(6):1575-1582. doi: 10.1002/ajmg.a.38161.
  2. Hofstra WA. et al., Pediatr Surg Int. 2020 May;36(5):569-577. doi: 10.1007/s00383-019-04608-4.
  3. “Megacystis-microcolon-intestinal hypoperistalsis syndrome.” Online Mendelian Inheritance in Man, https://omim.org/entry/249210.
  4. “Megacystis-microcolon-intestinal hypoperistalsis syndrome.” Genetics Home Reference, https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistalsis-syndrome#resources.
  5. Additional information and scientific articles on MMIHS can be found on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=megacystis-microcolon-intestinal+hypoperistalsis+syndrome.

Other Names for This Condition

The condition known as Megacystis-microcolon-intestinal hypoperistalsis syndrome is also referred to by several other names, including:

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
  • MMIHS
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Rare Genetic Syndromes
  • MMIHS – Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
  • Intestinal Hypoperistalsis Syndrome
  • MIC
  • Intestinal Hypomotility Disorder
  • Intestinal Pseudoobstruction

These names are used to describe the same condition which is characterized by the inheritance of mutations in certain genes that are involved in muscle contraction and the formation of muscles in the urinary tract, colon, and intestines.

Although the condition is rare, it has been associated with a number of other genetic disorders such as actin gene mutations, and it may also be congenital, meaning it is present from birth.

Diagnosis of the condition is usually made through genetic testing and identification of the specific gene mutations that are responsible for the condition. Additional testing may be carried out to support the diagnosis and determine the frequency of the condition in a particular patient or population.

For more information about Megacystis-microcolon-intestinal hypoperistalsis syndrome or other related disorders, the following resources may be useful:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of genetic disorders and genes, including information on Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • PubMed – a database of scientific articles, where you can find research and case studies about this condition
  • Genetic Testing Centers – specialized centers that offer genetic testing and counseling for rare genetic conditions
  • Advocacy Groups – organizations that provide support and resources for individuals and families affected by rare genetic disorders, such as Megacystis-microcolon-intestinal hypoperistalsis syndrome

Additional Information Resources

  • Scientific Articles: Access more information about Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and related conditions through scientific articles. PubMed is a useful resource to search for relevant articles on this rare genetic condition.

  • Genetic Testing: Learn more about the genetic testing options available for MMIHS and related disorders. Genetic testing can help identify the specific genes and mutations responsible for this condition and provide insights into its inheritance pattern.

  • Support and Advocacy: Connect with organizations and support groups that can provide information and assistance to individuals and families affected by MMIHS. These resources can offer emotional support, educational materials, and advocacy for improved care and research.

  • OMIM Gene Catalog: The Online Mendelian Inheritance in Man (OMIM) gene catalog provides comprehensive information on genes associated with MMIHS and other related disorders. This resource can help researchers and clinicians better understand the genetic basis of this condition.

  • References and Learn More: Explore additional references and learn more about MMIHS from reputable sources such as medical textbooks and scientific journals. These resources can provide in-depth information on the causes, symptoms, diagnosis, and treatment options for this condition.

Genetic Testing Information

The Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare condition that affects the development of the muscles in the bladder, intestines, and colon. It is also known as Berdon syndrome or congenital visceral myopathy. MMIHS is caused by genetic mutations in certain genes.

Genetic testing can be used to identify the specific genetic mutations associated with MMIHS. This type of testing involves analyzing a blood or saliva sample to look for changes in the genes that are known to cause the condition. Genetic testing can provide valuable information about the genetic makeup of an individual and help in making a diagnosis.

There are several genes that have been identified as being associated with MMIHS. These genes include ACTG2, MYH11, and LMOD1. Mutations in these genes can disrupt the formation and contraction of the muscles in the bladder, intestines, and colon, leading to the symptoms seen in MMIHS.

Genetic testing for MMIHS can be done through a variety of genetic testing methods, including targeted gene testing, whole-exome sequencing, and whole-genome sequencing. These tests can help to identify the specific genetic mutation that is causing the condition and provide information about the inheritance pattern of the condition.

It is important to note that genetic testing is not always necessary for a diagnosis of MMIHS. In some cases, a diagnosis can be made based on the clinical features and symptoms of the individual. However, genetic testing can provide additional information and help to confirm a diagnosis.

For individuals and families affected by MMIHS, genetic testing can also provide important information about inheritance patterns, recurrence risks, and reproductive options. It can help to answer questions about the likelihood of the condition being passed on to future generations and provide guidance for family planning.

There are several resources available for individuals and families seeking genetic testing information and support. These include advocacy organizations, patient support groups, and scientific publications. The Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM) are two valuable resources that provide information about rare genetic disorders, including MMIHS.

In conclusion, genetic testing can be a valuable tool for individuals and families affected by Megacystis-microcolon-intestinal hypoperistalsis syndrome. It can provide important information about the specific genetic mutations associated with the condition, as well as guidance for family planning. If you are interested in genetic testing, it is recommended to consult with a healthcare professional who specializes in genetics.

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Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) that offers information and support for patients and their families affected by rare genetic disorders.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic condition that affects the muscles in the intestines. It is characterized by the presence of a large bladder (megacystis), a small colon (microcolon), and a lack of movement in the intestines (intestinal hypoperistalsis).

While the exact causes of MMIHS are still being studied, some genetic mutations have been identified in certain genes, such as the ACTG2 gene. These mutations can occur in a de novo manner, meaning they are not inherited from parents, or they can be inherited from one or both parents.

To diagnose MMIHS, genetic testing can be performed to look for mutations in genes associated with the condition. This testing can be done on a blood sample or other tissue samples. Testing can also be done for other related conditions and disorders. The Online Mendelian Inheritance in Man (OMIM) catalog is a helpful resource for finding information about genes and genetic disorders.

Patients with MMIHS usually require intensive medical support, including intravenous nutrition and medications to help with bladder and intestinal function. Surgical intervention may be necessary to address any blockages or complications associated with the condition.

Advocacy groups and support networks can provide additional information and support for patients and their families affected by MMIHS. These resources can help individuals learn more about the condition, connect with other families, and find the latest scientific articles and research on MMIHS.

Patient Support and Advocacy Resources

In addition to scientific articles and research papers available on PubMed, there are several resources available to support patients and families affected by Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS). These resources provide information, patient support groups, and advocacy for individuals with MMIHS and their families.

1. Genetic Testing: Genetic testing is usually recommended for individuals with MMIHS to identify the specific genes associated with the condition. This testing can be done to confirm the diagnosis and provide additional information about the specific genetic mutations causing the syndrome. Testing may be available through genetic testing centers or research studies.

2. Patient Support Groups: There are patient support groups and organizations that focus specifically on MMIHS. These groups provide a community for individuals and families affected by the condition where they can share experiences, find emotional support, and learn from each other’s journeys. Some of these organizations include the MMIHS Foundation and the Center for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome.

3. Advocacy and Awareness: Advocacy groups play an important role in raising awareness about MMIHS and advocating for the needs of affected individuals and their families. These groups work to increase public understanding of the condition, promote research, and push for improved healthcare and support services.

4. Additional Information: For more information about Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, its causes, symptoms, and management, there are resources available such as the Online Mendelian Inheritance in Man (OMIM) catalog and the Genetics Home Reference website.

References:

  1. Halim D, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2019.
  2. Hofstra RMW, et al. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Eur J Hum Genet. 1997;5(4):180-5.

These resources provide valuable support and information for individuals with MMIHS and their families. It is important for patients and their loved ones to seek out these resources to better understand the condition and connect with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

The Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare condition characterized by the formation of a large bladder (megacystis) and underdeveloped or small colon (microcolon), as well as a lack of normal contractions in the intestines (intestinal hypoperistalsis), resulting in a blockage. This condition is also known as Berdon syndrome, as it was first described by Berdon and Halim in 1976.

Information about this rare genetic disorder can be found on OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders. OMIM provides scientific names for genes and diseases, as well as additional information such as the frequency of the disorder and references to related articles.

The genes associated with MMIHS have been identified through genetic testing and research. One of the genes implicated in MMIHS is ACTG2, which codes for a protein involved in the contraction of smooth muscles in the intestines. Mutations in the ACTG2 gene can lead to the abnormal development and function of these muscles in individuals with MMIHS.

The catalog on OMIM provides more information on the genetic basis of MMIHS, as well as other disorders associated with megacystis, microcolon, and intestinal hypoperistalsis. It also includes information on additional genes that have been implicated in these conditions, such as MYH11 and LMOD1.

Genes Associated with MMIHS
Gene Function References
ACTG2 Smooth muscle contraction Hofstra et al., 2008
MYH11 Smooth muscle contraction Halim et al., 2014
LMOD1 Actin-binding protein Halim et al., 2013

By learning more about the genetic basis of MMIHS and related conditions, researchers and medical professionals can better understand the underlying mechanisms and develop more targeted therapies and interventions for patients with this rare syndrome.

Scientific Articles on PubMed

Learn more about Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) by exploring scientific articles published on PubMed. These articles provide valuable information on the genetic testing, inheritance patterns, and other features associated with this rare condition.

MMIHS is usually caused by mutations in the ACTG2 gene, which plays a role in muscle contraction in the intestines. Testing for these genetic mutations can help diagnose the condition and provide additional information on its inheritance patterns.

The Hofstra center for genetic testing and research offers support and resources for patients and families affected by MMIHS. They have cataloged several articles and resources on the condition, including information on rare genetic disorders and advocacy organizations.

Some of the articles on PubMed provide more information on the genes and genetic mutations associated with MMIHS. They also discuss the rare features and blockage formation in the intestines that are identified in patients with MMIHS.

Halim et al. published an article on the genetic basis of MMIHS, highlighting the role of actin genes in the condition. This article provides a comprehensive overview of the genetic mutations and their implications in the development of MMIHS.

In addition to scientific articles, PubMed also provides links to related resources and databases such as OMIM, which contains information on the genes and genetic disorders associated with MMIHS.

By accessing the scientific articles on PubMed, you can gather more information about MMIHS and its genetic basis. This knowledge can aid in understanding the condition, providing support to affected individuals and their families, and advancing research on MMIHS and related disorders.

References

  • Hofstra, R.M., Stelwagen, T., van Tol, E.A. et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new congenital intestinal pseudoobstruction syndrome. J Pediatr Surg. 1995;30(6):866–868.
  • Testing for Megacystis-microcolon-intestinal hypoperistalsis syndrome. Genetics Home Reference. Retrieved from: https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/testing#resources
  • MMIHS. NORD (National Organization for Rare Disorders). Retrieved from: https://rarediseases.org/rare-diseases/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/
  • Learn more about Megacystis-microcolon-intestinal hypoperistalsis syndrome. MMIG-USA (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome International Foundation). Retrieved from: https://mmigusa.org/patient-information/
  • Genetic testing for Megacystis-microcolon-intestinal hypoperistalsis syndrome. OMIM (Online Mendelian Inheritance in Man). Retrieved from: https://omim.org/entry/249210#0001
  • Additional genetic testing for Megacystis-microcolon-intestinal hypoperistalsis syndrome. PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=megacystis-microcolon-intestinal+hypoperistalsis+syndrome
  • Barnett CP, Glowacki P, Langer JC. Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Rare Cause of Intestinal Obstruction in the Neonate. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2001;4(2):185-189.

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